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CONTROL AND MEASURING MEANS FOR THE ASSESSMENT OF KNOWLEDGE, SKILLS IN MOLECULAR BIOLOGY AND MEDICAL GENETICS

Year

I. Examination questions:

1. Subject and problems of molecular biology and genetics.

1. Main stages of development of molecular biology and genetics.

2. Objects and methods of molecular and genetic researches.

3. Achievements of foreign and domestic scientists in the field of molecular biology and genetics.

4. A role of molecular and genetic knowledge in medicine.

5. Nucleal acids, types, structure and functions.

6. Nucleotide structure. Formation of a polinukleotide chain.

7. Nucleotide structure of DNA. Specific specificity. Chargaff's rule. Biological value.

8. RNA. Types of RNA, function.

9. A gene – molekular– biological definition.

10. A mutton, recon, cistrone – definition, concept.

11. Molekular – a genetic structure of a gene prokaryots.

12. Molekular – a genetic structure of a gene eukaryots.

13. Coding and regulatory sequences, definition, functions.

14. Classification of genes.

15. The directions and types of transfer of hereditary information in live organisms

16. Principles of replication of DNA.

17. Features of replication of leading and lagging behind chains of DNA.

18. The main enzymes participating in replication and their function

19. Reasons, mechanisms of emergence and elimination of errors of replication

20. Structure and functions of telomer DNA and feature of its replication

21. Biological and medical value of errors of replication and incomplete replication

22. Telomer sites of linear molecules of DNA

23. Transcription, definition, stages.

24. A matrix principle of synthesis and - RNA.

25. Transcription of prokaryotic genes.

26. Transcription of eukaryotic genes.

27.After transkription updating nuclear i-RNK. Maturing (processing) of nuclear RNA. Splaysing, alternative splaysing, genetic value.

28. Translation, definition, stages.

29. Genetic code, definition, properties.

30. Ribosomes, structure, functions

31. Characteristic of stages of initiation, elongation and translation termination

32. Features of biosynthesis of proteins at about - and eukaryots.

33. Value of violations of translation in medicine.

34. Regulation of activity of genes, concept, essence, value in activity of organisms (cages).

35. Operon model of regulation of activity of genes at prokaryots.

36. Types of regulation of activity of genes (negative, positive, repressiable).

37. Levels of regulation of activity of genes, characteristic

38. Features of regulation of activity of eukaryotic genes.

39. Violations of regulation of activity of genes and their communication with pathological processes.

40. Telomerases and their influence on cellular aging.

41. An expression тelomerases in normal cells of the person.

42. Telomeras activity and length a telomer in tumoral cells of the person.

43. Cancer diagnostics, telomeras activity and malignant.

44. Problems of bioinformatics.

45. Main bioinformation programs.

46. Basic principles of bioinformatic work.

47. Studying of sequence of DNA with use of bioinformation programs.

48. Value of results of bioinformatic researches in medicine.

49. Localization of a genetic material in a cage (nuclear, cytoplasmatic).

50. Levels structural functional organization of a genetic material of a cage

and mechanisms of their formation.

51. Nukleogiston organization of a genetic material.

52. Chemical composition of chromosomes. Hromatin, eu-and heterohromatin, characteristic.

53. Types of chromosomes, Denver and Parisian nomenclature of chromosomes.

54. Karyotype definition, medico-genetic value.

55. Cellular cycle, definition, periods.

56. Mitotic cycle, definition, periods.

57. Mitosis, characteristic.

58. Gametogenesis. Oogenesis, semengenesis. Meyoz, characteristic.

59. All-biological, genetic and medical value of cell fission.

60. Mechanisms of genetic regulation of a mitotic cycle.

61. Mechanisms of genetic control of a mitotic cycle.

62. Reasons and mechanisms of violation of a mitotic cycle.

63. Medical consequence of violations of a mitotic cycle.

64. Apoptoz, definition.

65. Reasons of apoptoz.

66. Development stages of apoptoz.

67. Genetic control of process of apoptoz.

68. Medical value of apoptoz.

69. Hereditary variability

70. Rekombinative variability

71. Mutagenesis, mutagen factors.

72. Mutational variability, classification

73. Genomic and chromosomal mutations, their role development of chromosomal diseases.

74. The law RK from 23.04.1998 N 219-I «About radiating safety of the population»,

75. RK 09.01.2007 N 212 code – III «The ecological code of RK» (Chapter 40)

76. Mutations as an error of replication, mechanisms and developments.

77. Mutations as shift of a frame of reading, development mechanisms.

78. Mechanisms of development of hereditary diseases at different types of hereditary diseases.

79. Reparation, types of a reparation and their mechanisms:

- Fotoreaktivation;

- ekstsizion reparation;

- after replication reparation;

- miss-match reparation;

- SOS-reparation.

80. Anti-mutational barriers.

81. Biological and medical value of a reparation of DNA.

82. Structural organization of a genome of the person. Genomik and her directions. Program «Genome of the human» and its value.

83. Genetically engineered technologies. Modern achievements of genetic engineering and its prospect.

84. Main stages of the molecular analysis of DNA. Molecular and genetic methods of research: PTsR, DNA restriktion, blot-gibridization methods, DNA cloning, screening.

85. The main directions of application of modern molecular and genetic methods and technologies in medicine.

86. The rights and duties in health care and a guarantee of their providing (Chapter 16, the Code of the Republic of Kazakhstan «About health of the people and health system», 2009)

87. Cancerogenic factors, classification, their role in emergence of tumoral transformation of cages.

88. Protonkogenes and oncogenes, concept, a role in emergence and development of tumoral transformation of cages.

89. Onkoviruses, their role in emergence of tumoral transformation.

90. Malignant tumors, development stages, property.

91. Anti-oncogenes, mechanisms of antineoplastic protection.

92. Value of genetics in modern oncology.

93. Structure, properties and reproduction of viruses.

94. Classification of viruses – causative agents of infections of the person.

95. Mechanisms of transfer of a genetic material of viruses.

96. The molecular mechanisms caused by a virus infection: tumoral transformation of cages, HIV infection, resistance of bacteria.

97. Allocation of DNA of the set gene from a genome.

98. Transfer of genes in cages of other organisms.

99. Transgene plants.

100. DNA diagnostics.

101. Gene therapy of hereditary diseases.

102. Gene and cellular biotechnologies: achievements and prospects.

103. Methods of creation of transgene organisms, vectors for transfer of genes.

104. Biosafety of genomodifitional organisms (GMO): problems and decisions.

105. GMO application in medicine.

106. Genome structure eukaryots. Mobile elements of a genome.

107. Genomik and her directions.

108. Proteomik – the new direction in biology and XXI century medicine.

109. Metabolonomik and development of new drugs.

110. Bioinformatics and its prospects.

111. Structure of a cellular membrane.

112. Functions and types of membranes.

113. Mechanism of nuclear export and import.

114. The main types of biological transport through a membrane: active and passive.

115. Types of passive transport.

116. Vesicular transport:

- initiation of formation of vials;

- formation of vials in certain sites of membranes;

- direction of migration of vials;

- the proteins necessary for formation of vials and merge of vials with a membrane – a target.

117. Fermental cascade: general characteristic.

118. Primary intermediaries (extracellular signals): hormones, neuromediators, cytokines, growth factors.

119. Secondary messengers: general information.

120. Genetics – a science about heredity and variability, a subject, tasks, research methods. Main terms and concepts of genetics. Value of genetics in medicine.

121. Mendel's laws.

122. Inheritance types.

123. Mendel signs of the person. Mendel conditions.

124. Concept about coupling, group of coupling.

125. The linked inheritance.

126. Krossingover – mechanisms, evolutionary value.

127. Mapping of genes – methods, value.

128. Chromosomal theory of heredity, basic provisions.

129. Genotype, phenotype: definition, relationship.

130. Interaction of allel genes: recessiveness, incomplete domination, superdomination, kodomination.

131. Multiple reddened. Genetics of blood types. Medical value.

132. Interaction of not allel genes:komplimintation, epistasis, polimery.

133. Penetrantion, expressivity. Pleyotropiya.

134. Fenokopy. Genokopy.

135. Ontogenez: definition, types, periodization.

136. Early stages of ontogenesis: gametogenesis, fertilisation, polarity of an ovum, ooplazmatic segregation, item information, determination, differentiation, embryonic induction.

137. Cellular mechanisms of ontogenesis.

138. Differential activity of genes.

139. Gomeosis genes. Gomeoboks at the person and hereditary diseases.

140. Teratogen factors, teratogenesis.

141. Critical periods of development.

142. Congenital developmental anomalies (VPR): definition and cytogenetic mechanisms of their formation.

143. Classification, diagnostics and VPR prevention.

144. Protection of public health (Chapter 25, the Code of the Republic of Kazakhstan «About health of the people and health system», 2009)

145. Population, definition, population characteristics.

146. Demographic characteristics of population.

147. Types of populations and marriage structure of populations.

148. Genetic characteristics of population.

149. The elementary evolutionary processes proceeding in populations and feature of their action in human populations.

150. Genetic cargo of populations, concept, medical value.

151. Ecology, definition. Ecology and genetics communication.

152. Ecologically caused diseases of the person, mechanisms of their development.

153. Environment pollutants, classification, action.

154. Genetic consequences of environmental pollution in zones of ecological trouble of Kazakhstan (The Semipalatinsk nuclear range, etc.).

155. Activity in the sphere of sanitary-and-epidemiologic wellbeing of the population of RK (chapter 24, RK code «About people health in health system» 2009), Legislative bases of environmental protection (The ecological code of the Republic of Kazakhstan, 2007)

156. Value farmakogenetic in modern medicine and pharmacy.

157. Genetic control of a metabolism of medicines.

158. Hereditary diseases and the conditions provoked by reception of medicines. Health protection of citizens and the general safety requirements to medicines (Chapter 5, 15, the Code of the Republic of Kazakhstan «About health of the people and health system», 2009)

159. Types of chromosomal determination of a floor.

160. A role of Y of a chromosome and autosom genes in primary determination of a floor.

161. Secondary determination of a floor.

162. Dependent on a floor and the signs limited to a floor.

163. Ginandromorfs, intersexes, hermaphrodites and other sexual deviations, medical value.

164. Cloning: last, real, future.

165. Reproductive cloning.

166. Ethical and legal problems of cloning of organisms.

167. Cloning of the person: for or against.

168. Possible scopes of technology of cloning.

169. Cellular therapy and therapeutic cloning.

170. Genetics of aging.

171. Aging mechanism.

172. To tell about manifestation of aging of molecular and cellular level.

173. Modern theories of aging.

174. History of studying of stem cells (SK).

175. Achievements, prospects in studying of stem cells.

176. Application of stem cells in clinical practice.

177. Synthesis of medicines with application gene technologies

178. Biotechnological synthesis of medicines

179. Methodology of search of new medicines, products of biotechnology, genetic engineering in pathological conditions.

180. Leading factors of ecological trouble in an area of coverage of the Semipalatinsk nuclear range.

181. Leading factors of ecological trouble in Aral.

182. Results of studying of health of the population in these regions.

183. Definition of hereditary diseases of the person and their classification.

184. Classification of chromosomal diseases.

185. Autosomic syndromes.

186. Gonosomic syndromes.

187. Mechanisms of emergence of gene mutations.

188. Mechanisms of development of monogene diseases.

189. Classification of monogene diseases.

190. Mendel monogene diseases.

191. Not mendel monogene diseases.

192. Clinical manifestations of monogene diseases

193. Polygene (multifactorial) diseases, features of manifestation, classification.

194. Mechanisms of development of polygene diseases.

195. Associations of genetic markers with multifactorial diseases.

196. Main methods of research of polygene diseases.

197. Clinical-genealogic method. Principles of drawing up of a family tree, symbols and their value

198. Cytogenetic method. The analysis and interpretation of karyotypes at various types of chromosomal diseases

199. Biochemical methods of research, principles of diagnostics of hereditary diseases of a metabolism

200. Straight lines and indirect methods of DNA diagnostics, principles and mechanisms of identification of gene mutations at hereditary diseases

201. Prevention of hereditary pathology. Primary and secondary prevention.

202. MGK – a basis of primary prevention of hereditary pathology.

203. Retrospective and prospektive consultation.

204. Indications for MGK. Stages MGK.

205. Genetic forecast. Design procedures of genetic risk:

а) at diseases about the HELL type of inheritance,

б) at diseases with AR-type of inheritance,

в) at diseases with the H-linked prepotent type of inheritance,

г) at diseases with the H-linked recessiveness type of inheritance,

д) at chromosomal syndromes.

206. Prenatal diagnostics. Invasive and noninvasive methods.

207. Before implantation diagnostics.

208. Legal and ethical principles of carrying out MGK (article No. 95, Code 4.28. The Republic of Kazakhstan «About health of the people and health system», 2009).

209. Main methods of prevention of hereditary diseases.

210. Early before clinical diagnostics of hereditary diseases.

211. Genetic screening: mass, selective. Indications for carrying out.

212. Perikontseptsion prevention, purpose and basic provisions.

213. Bioethical problems of prevention of hereditary pathology.

214. Predictive medicine, definition and purposes.

215. Genome of the person, his feature.

216. Predisposition genes, their testing.

217. Genetic passport and genetic map of reproductive health.

218. Prospects of predictive medicine.

219. The genetic passport – individual base of DNA data.

220. The genetic passport - a basis of predictive medicine.

221. Diseases and pathological conditions available to genetic testing.

222. Bases of technology of receiving biochip.

223. Principle of operation of the biological biochip.

224. Value of biochips in diagnostics of diseases of the person.

225. Nanobiochips as basis of medicine of the future.

226. Stem cells, definition, properties.

227. Application of stem cells in treatment of diseases of the person.

228. Gene therapy and stem cells.

229. The mechanism of receiving stem cells, problems and prospects of their use in medicine

230. Etiology and pathogenesis of cystic fibrosis. Clinical manifestations.

231. Mitochondrial genome of the person.

232. Parent effect of cytoplasm.

233. Clinical manifestations of mutations mt-DNK.

234.Features of the inheritance of genomic imprinting diseases

235. Reasons and mechanisms of emergence of diseases of a genomic imprinting.

236. Clinical -genetic characteristics of diseases of a genomic imprinting (Prader – Willie and Engelman's syndrome).

237. Prevention and diagnosis of diseases of genomic imprinting.

238. Features of inheritance of the disease threenucleotide repeat expansion (Huntington's Chorea-, Myotonic dystrophy Kurshmana-Steiner-Batten syndrome, fragile X chromosome syndrome, or Martin-Bell).

239. The causes and mechanisms of disease threenucleotide repeat expansion.

240. Clinical and genetic characteristics of threenucleotide repeat expansion diseases.

241. Prevention and diagnosis of diseases of the expansion of trinucleotide repeats.

242. Molecular and cellular biology of prions.

243. The genetics of prion diseases.

244. The mutations that cause prion disease.

245. Modern classification of prion diseases.

246. Human prion diseases (disease Kroyttsfelda - Jakob disease, fatal familial insomnia, Kuru disease, a syndrome Gerstmanna - Shtroyslera - Sheynkera).

247. Inherited hemoglobin disorders and their causes.

248. Classification of hemoglobinopathies.

249. Diagnosis and treatment of hemoglobinopathies.

250. Characteristics and frequency of common genetic diseases

251. Genetic mechanisms of common genetic diseases

252. Types of common genetic diseases

253. The clinical manifestation, diagnosis and prevention of common diseases of genetic

254. Classification of hereditary diseases.

255. Modern methods of diagnosis and prevention of hereditary diseases.

256. The principles of treatment of hereditary diseases.

II. The test exam questions:

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